Canonical Allele Identifier: CA360866222

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119478908-G-C
• MyVariant Identifiers: chr5:g.118814603G>C (hg19) ; chr5:g.119478908G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478908G>C , CM000667.2:g.119478908G>C	GRCh38
NC_000005.9:g.118814603G>C , CM000667.1:g.118814603G>C	GRCh37
NC_000005.8:g.118842502G>C	NCBI36
NG_008182.1:g.31456G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.509G>C	ENSP00000426272.2:p.Gly170Ala
ENST00000518349.6:c.113-17635G>C	ENSP00000507185.1:n.113-17635G>C
ENST00000682445.1:c.*390G>C	ENSP00000508061.1:n.*390G>C
ENST00000682531.1:n.610G>C
ENST00000682626.1:c.*15G>C	ENSP00000507857.1:n.*15G>C
ENST00000682996.1:c.509G>C	ENSP00000507792.1:p.Gly170Ala
ENST00000683265.1:n.602G>C
ENST00000683371.1:c.*639G>C	ENSP00000508376.1:n.*639G>C
ENST00000683390.1:n.2199G>C
ENST00000683549.1:n.430G>C
ENST00000683936.1:c.*394G>C	ENSP00000507721.1:n.*394G>C
ENST00000683974.1:n.591G>C
ENST00000683996.1:c.98G>C	ENSP00000507060.1:p.Gly33Ala
ENST00000684131.1:n.348G>C
ENST00000684160.1:c.*199G>C	ENSP00000507821.1:n.*199G>C
ENST00000684214.1:c.509G>C	ENSP00000508071.1:p.Gly170Ala
ENST00000414835.7:c.584G>C	ENSP00000411960.3:p.Gly195Ala
ENST00000510025.7:c.509G>C MANE Select	ENSP00000424940.3:p.Gly170Ala
ENST00000643250.1:c.*381G>C	ENSP00000494737.1:n.*381G>C
ENST00000644146.1:c.*87G>C	ENSP00000494808.1:n.*87G>C
ENST00000645099.1:c.68G>C	ENSP00000496091.1:p.Gly23Ala
ENST00000645702.1:c.98G>C	ENSP00000496432.1:p.Gly33Ala
ENST00000645832.1:c.*394G>C	ENSP00000494316.1:n.*394G>C
ENST00000646058.1:c.509G>C	ENSP00000493579.1:p.Gly170Ala
ENST00000646355.1:c.*515G>C	ENSP00000493801.1:n.*515G>C
ENST00000646554.1:c.*487G>C	ENSP00000494542.1:n.*487G>C
ENST00000647335.1:c.*476G>C	ENSP00000495180.1:n.*476G>C
ENST00000647342.1:c.*440G>C	ENSP00000494992.1:n.*440G>C
ENST00000256216.10:c.509G>C	ENSP00000256216.6:p.Gly170Ala
ENST00000414835.6:c.89G>C	ENSP00000411960.2:p.Gly30Ala
ENST00000442060.7:c.509G>C	ENSP00000390208.3:p.Gly170Ala
ENST00000503168.5:n.498G>C
ENST00000504811.5:c.584G>C	ENSP00000420914.1:p.Gly195Ala
ENST00000505181.5:n.212G>C
ENST00000508788.5:n.411G>C
ENST00000509514.5:c.-376G>C	ENSP00000426272.1:n.-376G>C
ENST00000510025.5:c.437G>C	ENSP00000424940.1:p.Gly146Ala
ENST00000512644.1:n.77G>C
ENST00000512841.5:n.557G>C
ENST00000513628.5:c.98G>C	ENSP00000425993.1:p.Gly33Ala
ENST00000515235.6:n.569G>C
ENST00000515320.5:c.455G>C	ENSP00000424613.1:p.Gly152Ala
NM_000414.3:c.509G>C	NP_000405.1:p.Gly170Ala
NM_001199291.2:c.584G>C	NP_001186220.1:p.Gly195Ala
NM_001199292.1:c.455G>C	NP_001186221.1:p.Gly152Ala
NM_001292027.1:c.437G>C	NP_001278956.1:p.Gly146Ala
NM_001292028.1:c.89G>C	NP_001278957.1:p.Gly30Ala
NM_000414.4:c.509G>C MANE Select	NP_000405.1:p.Gly170Ala
NM_001199291.3:c.584G>C	NP_001186220.1:p.Gly195Ala
NM_001199292.2:c.455G>C	NP_001186221.1:p.Gly152Ala
NM_001292027.2:c.437G>C	NP_001278956.1:p.Gly146Ala
NM_001292028.2:c.89G>C	NP_001278957.1:p.Gly30Ala
NM_001374497.1:c.500G>C	NP_001361426.1:p.Gly167Ala
NM_001374498.1:c.509G>C	NP_001361427.1:p.Gly170Ala
NM_001374499.1:c.182G>C	NP_001361428.1:p.Gly61Ala
NM_001374500.1:c.68G>C	NP_001361429.1:p.Gly23Ala
NM_001374501.1:c.98G>C	NP_001361430.1:p.Gly33Ala
NM_001374502.1:c.98G>C	NP_001361431.1:p.Gly33Ala
NM_001374503.1:c.98G>C	NP_001361432.1:p.Gly33Ala
NR_164653.1:n.588G>C
NR_164654.1:n.776G>C